Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_024603.4
p.R245R
c.733C>A
NM_024603.4
p.K351fs
c.1051_1052fs
NM_024603.4
p.K120E
c.358A>G
NM_024603.4
p.K351insFs
c.1052dupA
NM_024603.4
p.M1T
c.2T>C
NM_024603.4
p.Y14H
c.40T>C
NM_024603.4
p.P17P
c.51C>T
NM_024603.4
p.D31G
c.92A>G
NM_024603.4
p.N34S
c.101A>G
NM_024603.4
p.Q35_Y38delFs
c.104_113del10
NM_024603.4
p.V40M
c.118G>A
NM_024603.4
p.P54H
c.161C>A